Genetic Test Details
Oculopharyngeal muscular dystrophy (OPMD)
Test Information
- Titre
- Oculopharyngeal muscular dystrophy (OPMD)
- Catégorie
- Neurogenetics
- Sub Category
- Oculopharyngeal muscular dystrophy (OPMD)
- Gene/Platform/Region List
- PABPN1 (GCN repeats)
- Test type
- Single Gene
- Samples Accepted
- DNA , Blood , Tissue
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- PCR , Electrophoresis
- Methodology Notes
- TP-PCR and fragment analysis
- Disease/Condition
- Oculopharyngeal muscular dystrophy (OPMD)
Dernière Mise à Jour: 18 juin 2025